Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing
Public ClinicalTrials.gov record NCT06749366. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders. Objective: To understand the genetic causes of OD and MS. Eligibility: People aged 2 years and older who have OD or MS with cartilage tumors or blood vessel disorders. Design: Participants will stay at the NIH clinic for 5 days. They will undergo these procedures: A physical exam with blood tests. DXA (dual-energy X-ray absorptiometry) scan. The DXA scan measures the density of bones. Participants will lie on a table while a machine uses low-level X-rays to scan their body. MRI (magnetic resonance imaging) scan. An MRI uses strong magnets to take pictures of the tissues inside the body. Participants will lie on a table that slides into a large tube. A contrast dye may be injected through a needle inserted into a vein in the arm. X-rays. Some participants may have full-body X-rays instead of an MRI. X-rays take pictures of bones and other internal tissues and organs, such as the heart, lungs, and airways. PET (positron emission tomography) and CT (computed tomography) scans. Adult participants will have 2 other scans. The PET scan will include a radioactive injection into a vein. They will also have a full-body CT scan.
Study identification
- NCT ID
- NCT06749366
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Enrollment
- 100 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 2 Years to 100 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jan 26, 2025
- Primary completion
- Dec 30, 2030
- Completion
- Dec 30, 2030
- Last update posted
- Jun 14, 2026
2025 – 2030
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT06749366, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jun 14, 2026 · Synced Sep 10, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT06749366 live on ClinicalTrials.gov.